E29K (p.Glu29Lys) variant of COL3A1 (Collagen alpha-1(III) chain)
E29K (p.Glu29Lys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E29K (p.Glu29Lys) variant details
- p.Glu29Lys
- gnomAD 2-188984765-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.33
- MetaLR 0.41
- MetaSVM -0.75
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.93
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available